The ADNP syndrome: Noemy's story and Artefacts' mission

Artefacts is more than just a brand; it's an adventure born from a personal story. My daughter, Noemy, has ADNP syndrome, a rare genetic disorder. Through this project, I hope not only to create, but also to raise awareness and share our journey.

What is ADNP syndrome?

ADNP (Activity-Dependent Neuroprotective Protein) syndrome is a rare and recently identified genetic disorder caused by an abnormality (mutation) in the ADNP gene. This gene plays a crucial role in brain development and many other bodily functions.

👉 It is estimated that ADNP syndrome affects approximately 1 in 20,000 to 30,000 children , making it a rare disease but one that is increasingly being diagnosed thanks to advances in genetics.

The main characteristics

Children with ADNP syndrome typically present with:

  • Delay in overall development : slower acquisition of walking, language and autonomy.
  • Communication difficulties : some children are non-verbal, others speak with a limited vocabulary.
  • Autism spectrum disorder (ASD) : difficulties in social interactions and repetitive behaviors.
  • Hypotonia (low muscle tone), difficulties with fine and gross motor skills.
  • Frequent sleep disturbances .
  • Medical peculiarities : sometimes cardiac, digestive, sensory (sight, hearing) problems, or subtle craniofacial anomalies.

The care

There is currently no cure , but appropriate care can improve the quality of life for children:

  • Speech therapy to develop language and communication.
  • Physiotherapy and psychomotor therapy to support motor skills.
  • Occupational therapy to develop daily autonomy.
  • Psychological and educational support tailored to specific needs.
  • Symptomatic treatment (sleep, epilepsy, anxiety, etc.) if necessary.

The research

ADNP syndrome is still poorly understood, but research is progressing rapidly. International associations and laboratories are already working on targeted treatments , particularly using molecules capable of acting on abnormalities in the ADNP gene.

In summary

ADNP syndrome is a rare but increasingly recognized condition that requires multidisciplinary care and compassionate daily support . Behind this complex name, there are above all extraordinary children who teach us every day about the strength, resilience, and beauty of difference.

The Story of Captain Cawette

Noemy's story

Artefacts is more than just a clothing brand. It was born from a personal story, that of my daughter Noemy, who has ADNP syndrome. Through Captain Cawette and the Artefacts collection, I transform a daily struggle into a creative and meaningful universe. Each piece tells a story and carries a message of inclusion.

The Story of Captain Cawette

Why talk about it?

ADNP syndrome is a rare genetic disease, and like all rare diseases, it suffers from a severe lack of visibility.

Few doctors know about it, even fewer families have heard of it, and often diagnoses come late, after years of doubt and research.

Talking about it is already a way of breaking the isolation .

For parents who learn that their child has the syndrome, every testimony, every resource, every story counts. It helps them feel less alone, better understand, and imagine a possible future.

Talking about it also raises awareness among the general public .

Behind a scientific term like "ADNP" are children, teenagers, and adults with smiles, dreams, challenges, but also incredible strength. Giving them a place in the eyes of others is a step towards a more inclusive society.

Talking about it ultimately supports research .

Every time we share information, a story, or attention, we contribute to creating collective momentum. It is thanks to this mobilization that science advances, that researchers like Professor Illana Gozes (who identified the ADNP gene) can continue their work, and that one day, perhaps, treatments will emerge.

At Artefacts , we believe that creativity can become a voice.

Through the adventures of Captain Cawette , the artifacts and the universe we are building, we want to remind people that every difference can become a strength, that every fragility can be transformed into heroism.

Talking about it gives Noemy and all the children involved a place in the world.

It is also about inviting everyone to become an actor in a more open, more curious, and more united society.

Useful resources

Orphanet – European portal for rare diseases, detailed information sheet on ADNP syndrome.

GeneReviews (NCBI) – Clinical genetic fact sheet in English, detailing symptoms, diagnosis and management.

ADNP Kids Research Foundation (United States) – Organization supporting clinical and community research for ADNP syndrome.

NORD (National Organization for Rare Disorders) – English-language resource addressing the syndrome, symptoms and associated resources.